ZMP
ENSDARG00000088167
Ensembl ID:
Human Orthologue:
SH2D2A
Human Description:
SH2 domain containing 2A [Source:HGNC Symbol;Acc:10821]
Mouse Orthologue:
Sh2d2a
Mouse Description:
SH2 domain protein 2A Gene [Source:MGI Symbol;Acc:MGI:1351596]
Alleles
There are 2 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa16543 | Nonsense | Available for shipment | Available now |
sa40907 | Splice Site, Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa16543
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
A > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000127358 | Nonsense | 75 | 434 | 2 | 6 |
Genomic Location (Zv9):
Chromosome 7 (position 30630742)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 29023084 |
GRCz11 | 7 | 29294234 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ACTGTAGTACAGTAACTWTCGCTGTTTGCAGGGAAGCAGARGATCAGCTC[A/T]GAGACAGGGATGTTGGATGCTTCCTTATCAGACTCAGCGAGAAAGCCATT
Long Flanking Sequence:
ATTCACCATGGAGGGAGGTCAGAAAGAGCAGATCCTCCAGTGGTTTGTGGAGACTCAGGCTATGTTCATCCTGTCTGATGGAAACTTTCCACGCTGGTTCCAAGGTTTCATCTCCAGACAGTAAGAACTAATAAGAGACGAGAGGTTTGCTAACCATAACTGTTACATTGTGAGCTGTAAAACATTATGAACGGCTATAGGCTGCAGGTGACTTATAATGCAAATGTCTGTTTGAAAATGGAGGCAGTTAAGCCATCACTAGGACTTGACCCGTTCAAAGGGTACACTTCTGTATTTAATGGATACATGTTAGGATTCATATTAATGCTTTAAAGTGATATATTAAAACCTAAAAGTGTTATAAAGATGATTTAGCAACTAAAAAGTATAAAAATGTGCCTTTAAAAAAGGGTAGCCCCTCAGTTATAGCTTTATTTCTTAGAGGGGGGCACTGTAGTACAGTAACTATCGCTGTTTGCAGGGAAGCAGAAGATCAGCTC[A/T]GAGACAGGGATGTTGGATGCTTCCTTATCAGACTCAGCGAGAAAGCCATTGGATATATTCTTTCATACAAGTAAGAATGAGAACAAACAGTCAGCAATATCATGTTGCACAGCATTTAATAATTGTCTTTAAATGTTAGTTCACATAATACAACTATTGGTTGTCTGGTTAGAGACCAGAAAAAAATTTTATTAAAAAAAAGAAGACTTAATGTTGACAATTTGATGTTACTGAGCTATTTAGTTTTCTGTACAAGCATTGTTTCTTAATGGTTCACTATAACTAAAGAGATATTATCAAATGGGACTTTGAATGTGTATTGTAAATTGTAATGTGATACATAATATAATCATTTTATATTCTTTATTGTGTCAAAAATGTAGATAATGGTTCTAAAACAGTTCTTCAATGTTTAATGTTGACAGAGGTCAGGATCGTTGTCGGCATTTTGTCATAAATCAAACGAAAACTGGCCTGTTTGTCGTTTCTGGTGATTCTAC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa40907
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
C > T
Consequence:
Splice Site, Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000127358 | Splice Site, Nonsense | 223 | 434 | 4 | 6 |
Genomic Location (Zv9):
Chromosome 7 (position 30633107)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 29025449 |
GRCz11 | 7 | 29296599 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCAATCGGAAGCTCACAACCTCCACCTCTATTGACAGGAACAGCCTGTCT[C/T]AGGTAACAATGTCAACTACTTCCTTGGATACAATCTATGCTTTTTTACAT
Long Flanking Sequence:
CAACTTATCCAGCACGTTTTTACGCAGCGGATGCCCTTTTAGCCGCAACCCATCTCTGGAAACATCCACACATTCAATCACACACACTCATACACTACAGGCAATTTAGCCTACCCAATTTACCTGTACCGCATGTCTTTGAAGAACATGCAAACTCCACACAGAAACGCCAACTGAGCCGAGGCTCGAACCAGCGACTTTCTTGCTGTGAGGCGACAGCACTACCTACTGCACCACTGCGTCGCCAGCAGAATGCTATCATATCCAGAAATGTCTTGCACTACTAATGTTCTTTTGTGTTATTTTTCTAGGATGATGGAAACGAGCTTTATGATGTGGTTCAAAATAGTCCCATAGTTACATCAGGAGTGAGTGTAAAGGCTCTAACAAGTTTATGGGAACAAGCTACCAACTGCCCACACAACATGGCTCCTGTCCTGCCTTCTAAAAGCAATCGGAAGCTCACAACCTCCACCTCTATTGACAGGAACAGCCTGTCT[C/T]AGGTAACAATGTCAACTACTTCCTTGGATACAATCTATGCTTTTTTACATACTCAGTATTGAGTTTCATTCATGTGTCAAAATCATTAGGCAATGAAAATCCCATCTCTGCCAAAGAAAAACGCACCACTTCGGAATTCTTTAAGCGCTGGTCTTCCTGGTACTAATCCTTCACATGAACAACACAGCATTACAGAATCAAGGACATCTGAGCACTACAGCTCTCAGTTATGGCCTACCCATCATGAAAACGGTCAGTCTTTAACTTCTAACTCCTATAATCCTACGCCCTCCATGCCTCAACAACCTCCTCCAGCTCCATTGATGACAGCCTCCTGTTCTTACGCTGTTCTTGACCCTAAAAAAATGCATTCTGGAGCTGGTCGAATGGCGAATATGGAAGAAACAGAACTACAGCCCAATCCACTCTATCAGGCCTCAACTGTTGCGTACGCTGGGCTGAAGAATCAACCTGAGGTTGAGTATGACAACCGTGCAAAT
Associated Phenotype:
Not determined